Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514038
rs397514038
DSG2
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		G 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs397514038
rs397514038
DSG2
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		G 0.700 CausalMutation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs397514038
rs397514038
DSG2
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		G 0.700 CausalMutation CLINVAR Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. 16505173

2006